Pseudodiastrophic dysplasia evolution with age and management. Report of two new cases and review of the literature.
Two new patients with pseudodiastrophic dysplasia are reported. Clinical and radiologic features, genetics, as well as, course and management of the disease are described for these two patients and seven others reported in the literature. Based also on histological findings, special emphasis is put on differential diagnosis with diastrophic dysplasia.
Canki-Klain
N
N
Department of Gynecology and Obstetrics, University Medical Center of Ljubljana, Zaloska, Yugoslavia.
Stanescu
V
V
Bebler
P
P
Maroteaux
P
P
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D002972:Cleft Palate; D003937:Diagnosis, Differential; D004392:Dwarfism / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology*; D005260:Female; D005808:Genes, Recessive; D006132:Growth Plate / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital; D011859:Radiography; D012600:Scoliosis / Q000151:congenital; D013131:Spine / Q000002:abnormalities